Structural variants drive context-dependent oncogene activation in cancer.

ABSTRACT: Higher-order chromatin structure is important for the regulation of genes by distal regulatory sequences^1,2. Structural variants (SVs) that alter three-dimensional (3D) genome organization can lead to enhancer-promoter rewiring and human disease, particularly in the context of cancer³. However, only a small minority of SVs are associated with altered gene expression^4,5, and it remains unclear why certain SVs lead to changes in distal gene expression and others do not. To address these questions, we used a combination of genomic profiling and genome engineering to identify sites of recurrent changes in 3D genome structure in cancer and determine the effects of specific rearrangements on oncogene activation. By analysing Hi-C data from 92 cancer cell lines an

SUBMITTER: Xu Z 

PROVIDER: S-EPMC9810360 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature